Friday, May 31, 2013

Over a year ago we received the devastating news of Freya's diagnosis. I remember the call on Friday evening from her pediatrician, then the sobbing on my 7 year olds shoulder because she was the first to come in the room after the phone call. I feel as if I should say, 'if I had known then what I know now then I wouldn't have been as upset". But that is impossible to say because back then I had no experience dealing with consistent doctor appt., therapies, daily injections. It all sounded so daunting and terrifying. But now, rather than look ahead and fear it, I live it. And the living, at least so far, isn't nearly as terrifying as the fearing it. We have a much better understanding of this disorder and some great people in our corner. We've experienced the fear and have come out of it thinking, "ehh, that wasn't so bad." Of course there are potentially many difficult things to come but we've learned to live the cliche of 'one-day at a time' when it comes to Freya. There's no guarantee she will be one way or the other. Freya has the sweetest personality of anyone I have ever met. She is very aware, social, fun, and, I think, fairly intelligent. Her biggest obstacle is her low-muscle tone. She is 19 months and not yet crawling on her hands and knees consistently, though she does a great combat crawl. When I help her position her feet properly she can now pull herself to standing. She has many signs and makes lots of different sounds. She loves music, animals and her sisters (the newest is 2 1/2 months). Freya is a delight to be around and has brought us so much laughter.
If someone had told me a year ago that I would be able to say all of these things, I might not have believed them. But now I know. There are of course frustrations, disappointments and a low-grade fear that I believe any parent of a special-needs child carries; but overall we have learned to adapt. There was a phrase kicking around in my head when I began this post: Hope is what we're riding on. We'll deal with reality when it comes.

What is PWS?

PWS stands for Prader-Willi Syndrome, a genetic disorder on the 15th chromosome. As stated at pwsausa.org :

Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children.PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist.